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Repeat Newborn Screening Result
Normal repeat newborn screening result.
If the first screen showed a markedly elevated level of Met (> 4 mg / dl), a normal second screen result is reassuring BUT may not rule out homocystinuria. Therefore the metabolic physician may want to await the results of more definitive tests.
If the first screen was only mildly elevated however, the newborn screening increase was probably transient (false positive).
Once the metabolic team has confirmed that the infant does not have homocystinuria, it is essential to reassure the family that their baby is well and that they should treat their baby as entirely normal. Many people can be made anxious by a false positive result and counseling may be appropriate. If the metabolic physician remains concerned, however, then he/she will discuss this further with you and may consider further evaluation. It is important to remember, however, that this does not mean that the baby has homocystinuria but only that the metabolic doctor is taking an extra cautious approach until definitive results are available to keep the baby safe and well.
Abnormal repeat newborn screen result.
An elevated Met on the second sample is very suspicious of homocystinuria and further evaluation by the metabolic doctor is definitely required.
See Met elevated, probable homocystinuria discussions in first newborn screening result section.
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